## Abstract Paget disease of bone (PDB) is a common disorder characterized by increased bone turnover at one of more sites throughout the skeleton. Genetic factors play an important role in the pathogenesis of PDB, and the most important predisposing gene is __SQSTM1__, which is mutated in about 10
Sequestosome 1 (SQSTM1) Mutations in Paget’s Disease of Bone from the United States
✍ Scribed by Emily C. Rhodes; Teresa L. Johnson-Pais; Frederick R. Singer; Donna P. Ankerst; Jan M. Bruder; Julie Wisdom; Dave S. B. Hoon; Emerald Lin; Henry G. Bone; Kenneth J. Simcic; Robin J. Leach
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 248 KB
- Volume
- 82
- Category
- Article
- ISSN
- 1432-0827
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract Even though __SQSTM1__ gene mutations have been identified in a consistent number of patients, the etiology of Paget's disease of bone (PDB) remains in part unknown. In this study we analyzed __SQSTM1__ mutations in 533 of 608 consecutive PDB patients from several regions, including the
## Abstract ## Objective To estimate the occurrence of familial Paget's disease of bone in The Netherlands, to examine the prevalence of mutations of the sequestosome 1 gene (__SQSTM1__) in identified families, and to assess potential genotype–phenotype associations. ## Methods We performed a ca